Publications by authors named "M Filomena J Raposo"

This research addresses housing customisation by using digital tools in co-design processes. This paper introduces the development of a Graphical User Interface (GUI) that assists the end-users' interaction with the design process. Although the participation of end users in the design process is considered essential, a communication gap persists between designers and end users, and there is a lack of tools to help inhabitants express their needs and desires.

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Introduction: Knowledge about the distribution and frequency of the respective haplotypes on the wildtype and mutant allele is highly relevant in the context of future gene therapy clinical studies in Spinocerebellar Ataxia Type 3, the most common autosomal dominantly inherited ataxia. Single nucleotide polymorphisms associated to the disease-causing gene, ATXN3, have been determined. We wanted to investigate the frequency and regional distribution of two intragenic single nucleotide polymorphisms (SNPs) in a large European SCA3 cohort and their relation to the clinical phenotype.

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Background: Body balance is regulated by sensory information from the vestibular, visual and somatosensory systems, and changes in one or more of these sensory systems can trigger balance disorders. Individuals with type 2 Diabetes Mellitus (DM2) often present peripheral neuropathy, a condition that alters foot sensory information and can negatively influence balance and gait performance of these subjects.

Objective: To evaluate and compare balance, gait, functionality and the occurrence of falls between individuals with and without a clinical diagnosis of DM2 with associated peripheral neuropathy.

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A simple and reliable methodology for the detection of paralytic shellfish toxins (PSTs) in bivalve tissues using potentiometric chemical sensors was developed. Five methods of PST extraction from mussel and oyster tissues were evaluated, including the AOAC-recommended method, which served as the reference. The main objective was to minimize the matrix effect of the extracts on the sensors' responses and ensure efficient toxin recovery.

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Article Synopsis
  • Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is linked to a CAG repeat expansion in the ATXN3 gene, with longer repeats leading to earlier disease onset and increased intergenerational anticipation.
  • Researchers used advanced sequencing techniques to analyze the ATXN3 repeat and somatic expansion in individuals from the Azores, finding issues with traditional measurement methods that could affect understanding of clinical outcomes.
  • The study indicated that while age and CAG repeat length influence somatic expansion, the age factor was more significant, and a specific single nucleotide variant was associated with the expansion rate, highlighting the potential for using ATXN3 repeat analysis in clinical trials.
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